Not logged inMosaic RASopathies concept: different skin lesions, same systemic manifestations?
Morren, Marie-Anne; Fodstad, Heidi; Brems, Hilde; Bedoni, Nicola; Guenova, Emmanuella; Jacot-Guillarmod, Martine; Busiah, Kanetee; Giuliano, Fabienne; Gilliet, Michel; Atallah, Isis .png)
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SaveThe neurodevelopmental and facial phenotype in individuals with a TRIP12 variantAerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde Share Save Genotype-phenotype correlations in recessive titinopathiesSavarese, Marco; Vihola, Anna; Oates, Emily C.; Barresi, Rita; Fiorillo, Chiara; Tasca, Giorgio; Jokela, Manu; Sarkozy, Anna; Luo, Sushan; Diaz-Manera, Jordi; Ehrstedt, Christoffer; Rojas-Garcia, Ricardo; Saenz, Amets; Muelas, Nuria; Lonardo, Fortunato; Fodstad, Heidi; Qureshi, Talha; Johari, Mridul; Valipakka, Salla; Luque, Helena; Petiot, Philippe; de Munain, Adolfo Lopez; Pane, Marika; Mercuri, Eugenio; Torella, Annalaura; Nigro, Vincenzo; Astrea, Guja; Santorelli, Filippo Maria; Bruno, Claudio; Kuntzer, Thierry; Illa, Isabel; Vilchez, Juan J.; Julien, Cedric; Ferreiro, Ana; Malandrini, Alessandro; Zhao, Chong-Bo; Casar-Borota, Olivera; Davis, Mark; Muntoni, Francesco; Hackman, Peter; Udd, Bjarne Share Save Combined Lung and Liver Transplantation for Short Telomere SyndromeMoschouri, Eleni; Vionnet, Julien; Giostra, Emiliano; Daccord, Cecile; Lazor, Romain; Sciarra, Amedeo; Letovanec, Igor; Sempoux, Christine; Gonzalez, Michel; Unger, Sheila; Fodstad, Heidi; Haubitz, Monika; Baerlocher, Gabriela Maria; Voruz, Sophie; Naveiras, Olaia; Jacquemin, Emmanuel; Moradpour, Darius; Fraga, Montserrat Share Save Share Save Share Save Share Save Share Save Share Save Share Save β1-Adrenergic receptor polymorphisms, QTc interval and occurrence of symptoms in type 1 of long QT syndromePaavonen, Kristian J.; Swan, Heikki; Piippo, Kirsi; Laitinen, Paivi; Fodstad, Heidi; Sarna, Senno; Toivonen, Lauri; Kontula, Kimmo; Viitasalo, Matti Share Save 
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